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Phenotypes Associated with This Genotype
Genotype
MGI:3625276
Allelic
Composition
Chkbrmd/Chkbrmd
Genetic
Background
involves: BALB/cByJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chkbrmd mutation (0 available); any Chkb mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Small size, radius and ulna deformities and muscle wasting in Chkbrmd/Chkbrmd mice

muscle
• increased numbers of subsarcolemmal vesicles are seen in the medial gastrocnemius muscle and multiple sites disruption are detected in the sarcolemma
• however, Evans blue dye indicates that sarcolemmal membrane integrity is normal
• enlarged mitochondria are seen in both hindlimb and forelimb muscles but no signs of mitochondrial proliferation are seen
• in hindlimbs 18% of fibers have centralized nuclei by 8 weeks of age compared to less than 2% of wild-type muscle fibers
• at 66 days of age, hindlimb muscles display centralized nuclei, fatty infiltration, and loss of muscle fibers
• however, in forelimbs very little loss of muscle fibers is seen even at 1 year of age
• muscular dystrophy does not appear to affect lifespan
• at 66 days of age, forelimb muscles have variable fiber diameter and some centralized nuclei indicating degeneration and regeneration of muscle fibers

limbs/digits/tail
• visibly rotated outward by 6 days of age
• severely bowed

homeostasis/metabolism
• muscle creatine kinase levels are about 3-fold higher than in wild-type littermates
• phosphatidylcholine levels are decreased in the forelimb muscles but not in the liver, brain, kidney , or heart

nervous system
N
• no abnormalities are seen in the spinal cord, sciatic nerves, retina, or neuromuscular junctions

skeleton
• severely bowed

behavior/neurological
• hindlimb weakness
• significant loss of hindlimb motor control by 2-3 months of age; however only forelimb muscle is only slightly affected

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
megaconial type congenital muscular dystrophy DOID:0110632 OMIM:602541
J:108320


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/13/2019
MGI 6.13
The Jackson Laboratory